Canonical Allele Identifier: CA375686143

Gene: ABO

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256182G>T , CM000671.2:g.133256182G>T	GRCh38
NC_000009.11:g.136131569G>T , CM000671.1:g.136131569G>T	GRCh37
NC_000009.10:g.135121390G>T	NCBI36
NG_006669.1:g.21486C>A
NG_006669.2:g.24034C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.578C>A
ENST00000647353.1:n.54-5030C>A
ENST00000651471.1:n.504C>A
ENST00000679909.1:c.28+18980C>A	ENSP00000506089.1:n.28+18980C>A
ENST00000453660.3:n.560C>A
ENST00000538324.2:c.546C>A	ENSP00000483018.1:p.Asp182Glu
ENST00000611156.4:c.546C>A	ENSP00000483265.1:p.Asp182Glu
NM_020469.2:c.549C>A	NP_065202.2:p.Asp183Glu
NM_020469.3:c.549C>A	NP_065202.2:p.Asp183Glu